Markello TC - Search Results

1

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.

Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. Yuan H, et al. Among authors: markello tc. Nat Commun. 2014;5:3251. doi: 10.1038/ncomms4251. Nat Commun. 2014. PMID: 24504326 Free PMC article.

2

Parenchymal organ cystine depletion with long-term cysteamine therapy.

Gahl WA, Charnas L, Markello TC, Bernardini I, Ishak KG, Dalakas MC. Gahl WA, et al. Among authors: markello tc. Biochem Med Metab Biol. 1992 Dec;48(3):275-85. doi: 10.1016/0885-4505(92)90074-9. Biochem Med Metab Biol. 1992. PMID: 1476793

3

Effect of growth hormone treatment on serum creatinine concentration in patients with cystinosis and chronic renal disease.

Andersson HC, Markello T, Schneider JA, Gahl WA. Andersson HC, et al. J Pediatr. 1992 May;120(5):716-20. doi: 10.1016/s0022-3476(05)80233-1. J Pediatr. 1992. PMID: 1578305

4

High-performance liquid chromatography of lipids for the identification of human metabolic disease.

Markello TC, Guo J, Gahl WA. Markello TC, et al. Anal Biochem. 1991 Nov 1;198(2):368-74. doi: 10.1016/0003-2697(91)90441-u. Anal Biochem. 1991. PMID: 1799224

5

Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis.

Kimonis VE, Troendle J, Rose SR, Yang ML, Markello TC, Gahl WA. Kimonis VE, et al. Among authors: markello tc. J Clin Endocrinol Metab. 1995 Nov;80(11):3257-61. doi: 10.1210/jcem.80.11.7593434. J Clin Endocrinol Metab. 1995. PMID: 7593434 Clinical Trial.

6

Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy.

Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: markello tc. Am J Ophthalmol. 1994 Nov 15;118(5):569-82. doi: 10.1016/s0002-9394(14)76572-9. Am J Ophthalmol. 1994. PMID: 7977570

7

Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.

Gahl WA, Bernardini IM, Dalakas MC, Markello TC, Krasnewich DM, Charnas LR. Gahl WA, et al. Among authors: markello tc. Pediatr Res. 1993 Aug;34(2):115-9. doi: 10.1203/00006450-199308000-00001. Pediatr Res. 1993. PMID: 8233709

8

Redox, transferrin-independent, and receptor-mediated endocytosis iron uptake systems in cultured human fibroblasts.

Oshiro S, Nakajima H, Markello T, Krasnewich D, Bernardini I, Gahl WA. Oshiro S, et al. J Biol Chem. 1993 Oct 15;268(29):21586-91. J Biol Chem. 1993. PMID: 8408010 Free article.

9

Improved renal function in children with cystinosis treated with cysteamine.

Markello TC, Bernardini IM, Gahl WA. Markello TC, et al. N Engl J Med. 1993 Apr 22;328(16):1157-62. doi: 10.1056/NEJM199304223281604. N Engl J Med. 1993. PMID: 8455682 Free article.

10

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

Rouhani FN, Brantly ML, Markello TC, Helip-Wooley A, O'Brien K, Hess R, Huizing M, Gahl WA, Gochuico BR. Rouhani FN, et al. Among authors: markello tc. Am J Respir Crit Care Med. 2009 Dec 1;180(11):1114-21. doi: 10.1164/rccm.200901-0023OC. Epub 2009 Sep 3. Am J Respir Crit Care Med. 2009. PMID: 19729668 Free PMC article.

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